Nav: Home

Promising new drug could help treat spinal muscular atrophy

July 25, 2016

COLUMBIA, Mo. - According to studies, approximately one out of every 40 individuals in the United States is a carrier of the gene responsible for spinal muscular atrophy (SMA), a neurodegenerative disease that causes muscles to weaken over time. Researchers at the University of Missouri developed a new molecule in April 2014 that was found to be highly effective in animal models exhibiting SMA. Now, testing of that compound is leading to a better prognosis for mice with the disease and the possibility of potential drugs that will improve outcomes for patients with SMA.

"Our team has been fine-tuning a potential therapeutic for SMA and what it does," said Chris Lorson, an investigator in the Bond Life Sciences Center and a professor of veterinary pathobiology in the MU College of Veterinary Medicine. "It's a type of molecule called an antisense oligonucleotide, or ASO, that essentially is synthetic string of nucleic acid that binds a specific sequence in the gene."

In individuals affected by SMA, the survival motor neuron-1 (SMN1) gene is mutated and lacks the ability to process a key protein that helps neurons function. Muscles that control walking or even lifting an arm often are profoundly affected as well as muscles important for breathing. Fortunately, humans have a nearly identical copy gene called SMN2, however, SMN2 normally only makes a small amount of the correct SMN protein. Lorson's compound targets SMN2 and effectively "turns the volume up" for SMN2, allowing it to make more of the correct SMN protein.

"Our current treatment helps the body create a backup mechanism to combat the disease and extends survival in mice with SMA from just 13 days to a little over five months after only one injection at birth," Lorson said. "This treatment helps produce the right form of SMN, the one that was only produced at very low levels before."

Lorson stressed that his lab's achievement does not promise a cure for SMA and that it is unlikely a single compound will address the full gamut of symptoms. However, by combining therapies currently being researched, a better prognosis could be on the horizon, Lorson said.

The early-stage results of this research are promising. If additional studies are successful within the next few years, these compounds may be tested in human clinical trials with the hope of developing new treatments for SMA.

The study, "Optimization of Morpholino Antisense Oligonucleotides Targeting the Intronic Repressor Element1 in Spinal Muscular Atrophy," recently was accepted for publication in Molecular Therapy, a journal of Nature. Previous funding was received from CureSMA. Erkan Osman, a postdoctoral fellow and lead author on this publication working in Lorson's lab is funded by FightSMA and the Gwendolyn Strong Foundation. The content is solely the responsibility of the authors and does not necessarily represent the official views of the funding agencies.
-end-
Editor's Note: For more on the story, please see: https://decodingscience.missouri.edu/2016/07/21/finding-hope-by-fixing-a-gene/

University of Missouri-Columbia

Related Neurodegenerative Disease Articles:

Special issue of Future Medicinal Chemistry explores advances in neurodegenerative disease therapy
Future Medicinal Chemistry, a leading MEDLINE indexed journal for medicinal chemists, has published two Special Focus issues on Medicinal Chemistry Advances in Neurodegenerative Disease Therapy.
Neurodegenerative disease mechanism and potential drug identified
Two new, UC Davis-led studies of neurodegenerative diseases linked to mitochondrial defects offer hope for developing a new biomarker for research and diagnostics, and a drug for treating such diseases.
Biomarker test for ALS useful in diagnosing canine neurodegenerative disease
In 2009, Joan Coates, a veterinary neurologist, along with other researchers at the University of Missouri and the Broad Institute at MIT/Harvard, found a genetic link between degenerative myelopathy (DM) in dogs and amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease.
Common factor links neurodegenerative disease in young and old
Scientists at the Gladstone Institutes and the University of California, San Francisco (UCSF), identified a common mechanism in two forms of neurodegeneration that affect young adults or the elderly.
Doctoral student's research looks at cause of neurodegenerative disease
A Kansas State University student hopes her research on a currently untreatable and progressive neurodegenerative disease will one day lead to treatment options.
Turning off the protein tap -- A new clue to neurodegenerative disease
Disabling a part of brain cells that acts as a tap to regulate the flow of proteins has been shown to cause neurodegeneration, a new study from The University of Manchester has found.
Potential Alzheimer's medication shows promise in mouse model of neurodegenerative disease
This month in the JCI, work led by Andrew Tobin at the University of Leicester tested two drugs that specifically target the M1 muscarinic acetylcholine receptor in a mouse model of Alzheimer's disease and discovered that the treatments had promising effects on symptoms of cognitive decline.
Stanford patient is first infant to receive lifesaving drug for neurodegenerative disease
Four-year-old Zoe Harting is doing well after participating in a phase-2 clinical trial of the first drug for a deadly genetic disease, spinal muscular atrophy type 1.
Mutant prion protein could help reveal neurodegenerative disease mechanisms
For the first time, scientists have isolated a mutated prion protein that can multiply in the lab but not in living animals, according to a PLOS Pathogens study.
Toxic peptides disrupt membrane-less organelles in neurodegenerative disease
St. Jude Children's Research Hospital scientists reveal how toxic peptides that arise due to amyotrophic lateral sclerosis and frontotemporal dementia target the integrity of membrane-less organelles and trigger disease.

Related Neurodegenerative Disease Reading:

Best Science Podcasts 2019

We have hand picked the best science podcasts for 2019. Sit back and enjoy new science podcasts updated daily from your favorite science news services and scientists.
Now Playing: TED Radio Hour

Anthropomorphic
Do animals grieve? Do they have language or consciousness? For a long time, scientists resisted the urge to look for human qualities in animals. This hour, TED speakers explore how that is changing. Guests include biological anthropologist Barbara King, dolphin researcher Denise Herzing, primatologist Frans de Waal, and ecologist Carl Safina.
Now Playing: Science for the People

#SB2 2019 Science Birthday Minisode: Mary Golda Ross
Our second annual Science Birthday is here, and this year we celebrate the wonderful Mary Golda Ross, born 9 August 1908. She died in 2008 at age 99, but left a lasting mark on the science of rocketry and space exploration as an early woman in engineering, and one of the first Native Americans in engineering. Join Rachelle and Bethany for this very special birthday minisode celebrating Mary and her achievements. Thanks to our Patreons who make this show possible! Read more about Mary G. Ross: Interview with Mary Ross on Lash Publications International, by Laurel Sheppard Meet Mary Golda...